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Antegonial notching of mandible

MedGen UID:
334972
Concept ID:
C1844509
Finding
Synonyms: Deep antegonial notch of mandible; Large antegonial notch of mandible
 
HPO: HP:0003779

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAntegonial notching of mandible

Conditions with this feature

Andersen Tawil syndrome
MedGen UID:
327586
Concept ID:
C1563715
Disease or Syndrome
Andersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and prolonged QT interval; and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Affected individuals present in the first or second decade with either cardiac symptoms (palpitations and/or syncope) or weakness that occurs spontaneously following prolonged rest or following rest after exertion. Mild permanent weakness is common. Mild learning difficulties and a distinct neurocognitive phenotype (i.e., deficits in executive function and abstract reasoning) have been described.
Frontometaphyseal dysplasia 1
MedGen UID:
923943
Concept ID:
C4281559
Congenital Abnormality
The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD1, females are less severely affected than related affected males. Males do not experience a progressive skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata.

Recent clinical studies

Etiology

Ueda N, Zaizen M, Imai Y, Kirita T
Tomography 2023 Jun 22;9(4):1236-1245. doi: 10.3390/tomography9040098. PMID: 37489466Free PMC Article
Schütz C, Denes BJ, Kiliaridis S, Antonarakis GS
Clin Exp Dent Res 2022 Aug;8(4):923-930. Epub 2022 Apr 30 doi: 10.1002/cre2.577. PMID: 35488722Free PMC Article
Davidovitch M, Eleftheriadi I, Kostaki A, Shpack N
Eur J Orthod 2016 Dec;38(6):555-562. Epub 2015 Nov 25 doi: 10.1093/ejo/cjv084. PMID: 26609074
Ali IM, Yamada K, Hanada K
J Oral Rehabil 2005 Jan;32(1):1-6. doi: 10.1111/j.1365-2842.2004.01381.x. PMID: 15634294
Salem OH, Al-Sehaibany F, Preston CB
J Clin Pediatr Dent 2003 Spring;27(3):261-5. doi: 10.17796/jcpd.27.3.m46h21173x62jx07. PMID: 12739688

Diagnosis

Rosa VLM, Zwir LMF, Dutra MEP, Russo GCS, Rodrigues WDR, Terreri MT
Adv Rheumatol 2023 Feb 13;63(1):6. doi: 10.1186/s42358-023-00285-4. PMID: 36782277
Mączka G, Kulus M, Grzelak J, Porwolik M, Dobrzyński M, Dąbrowski P
J Anat 2022 Oct;241(4):919-927. Epub 2022 Jul 27 doi: 10.1111/joa.13731. PMID: 35895860Free PMC Article
Abramowicz S, Simon LE, Susarla HK, Lee EY, Cheon JE, Kim S, Kaban LB
J Oral Maxillofac Surg 2014 Jun;72(6):1063-9. Epub 2013 Nov 28 doi: 10.1016/j.joms.2013.11.021. PMID: 24742698
Ali IM, Yamada K, Hanada K
J Oral Rehabil 2005 Jan;32(1):1-6. doi: 10.1111/j.1365-2842.2004.01381.x. PMID: 15634294
Gorlin RJ, Glass L
Radiology 1977 Nov;125(2):547-8. doi: 10.1148/125.2.547. PMID: 198847

Therapy

Gupta B, Acharya A, Singh S, Brazzoli S, Ghorab M, Malik S, Pelekos G, Rossouw E
Dentomaxillofac Radiol 2019 Jan;48(1):20170360. Epub 2018 Sep 4 doi: 10.1259/dmfr.20170360. PMID: 30004255Free PMC Article
Davidovitch M, Eleftheriadi I, Kostaki A, Shpack N
Eur J Orthod 2016 Dec;38(6):555-562. Epub 2015 Nov 25 doi: 10.1093/ejo/cjv084. PMID: 26609074
Salem OH, Al-Sehaibany F, Preston CB
J Clin Pediatr Dent 2003 Spring;27(3):261-5. doi: 10.17796/jcpd.27.3.m46h21173x62jx07. PMID: 12739688
Kolodziej RP, Southard TE, Southard KA, Casko JS, Jakobsen JR
Am J Orthod Dentofacial Orthop 2002 Apr;121(4):357-63. doi: 10.1067/mod.2002.121561. PMID: 11997759
Preston B, Al-Sehaibany F, Salem O
J Clin Pediatr Dent 2002 Winter;26(2):155-60. doi: 10.17796/jcpd.26.2.av4179x75q3287k2. PMID: 11874007

Prognosis

Mączka G, Kulus M, Grzelak J, Porwolik M, Dobrzyński M, Dąbrowski P
J Anat 2022 Oct;241(4):919-927. Epub 2022 Jul 27 doi: 10.1111/joa.13731. PMID: 35895860Free PMC Article
Gupta B, Acharya A, Singh S, Brazzoli S, Ghorab M, Malik S, Pelekos G, Rossouw E
Dentomaxillofac Radiol 2019 Jan;48(1):20170360. Epub 2018 Sep 4 doi: 10.1259/dmfr.20170360. PMID: 30004255Free PMC Article
Davidovitch M, Eleftheriadi I, Kostaki A, Shpack N
Eur J Orthod 2016 Dec;38(6):555-562. Epub 2015 Nov 25 doi: 10.1093/ejo/cjv084. PMID: 26609074
Abramowicz S, Simon LE, Susarla HK, Lee EY, Cheon JE, Kim S, Kaban LB
J Oral Maxillofac Surg 2014 Jun;72(6):1063-9. Epub 2013 Nov 28 doi: 10.1016/j.joms.2013.11.021. PMID: 24742698
Kolodziej RP, Southard TE, Southard KA, Casko JS, Jakobsen JR
Am J Orthod Dentofacial Orthop 2002 Apr;121(4):357-63. doi: 10.1067/mod.2002.121561. PMID: 11997759

Clinical prediction guides

Unal Erzurumlu Z, Sadik E, Gokkurt BN, Ozbey F, Erzurumlu K, Kasko Arici Y
BMC Oral Health 2023 Jul 7;23(1):457. doi: 10.1186/s12903-023-03162-0. PMID: 37420199Free PMC Article
Mączka G, Kulus M, Grzelak J, Porwolik M, Dobrzyński M, Dąbrowski P
J Anat 2022 Oct;241(4):919-927. Epub 2022 Jul 27 doi: 10.1111/joa.13731. PMID: 35895860Free PMC Article
Schütz C, Denes BJ, Kiliaridis S, Antonarakis GS
Clin Exp Dent Res 2022 Aug;8(4):923-930. Epub 2022 Apr 30 doi: 10.1002/cre2.577. PMID: 35488722Free PMC Article
Davidovitch M, Eleftheriadi I, Kostaki A, Shpack N
Eur J Orthod 2016 Dec;38(6):555-562. Epub 2015 Nov 25 doi: 10.1093/ejo/cjv084. PMID: 26609074
Kolodziej RP, Southard TE, Southard KA, Casko JS, Jakobsen JR
Am J Orthod Dentofacial Orthop 2002 Apr;121(4):357-63. doi: 10.1067/mod.2002.121561. PMID: 11997759

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